Canonical Allele Identifier: CA349456001

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1239268108
• gnomAD v2: 2-179409034-G-T
• gnomAD v4: 2-178544307-G-T
• MyVariant Identifiers: chr2:g.179409034G>T (hg19) ; chr2:g.178544307G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544307G>T , CM000664.2:g.178544307G>T	GRCh38
NC_000002.11:g.179409034G>T , CM000664.1:g.179409034G>T	GRCh37
NC_000002.10:g.179117280G>T	NCBI36
NG_011618.3:g.291496C>A , LRG_391:g.291496C>A
NG_051363.1:g.26481G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.88218C>A (TTN)	ENSP00000343764.6:p.Asp29406Glu
ENST00000342175.11:c.69303C>A (TTN)	ENSP00000340554.6:p.Asp23101Glu
ENST00000359218.10:c.69102C>A (TTN)	ENSP00000352154.5:p.Asp23034Glu
ENST00000342175.10:c.69303C>A (TTN)	ENSP00000340554.6:p.Asp23101Glu
ENST00000342992.10:c.88218C>A (TTN)	ENSP00000343764.6:p.Asp29406Glu
ENST00000359218.9:c.69102C>A (TTN)	ENSP00000352154.5:p.Asp23034Glu
ENST00000460472.6:c.68727C>A (TTN)	ENSP00000434586.1:p.Asp22909Glu
ENST00000589042.5:c.95922C>A (TTN) MANE Select	ENSP00000467141.1:p.Asp31974Glu
ENST00000591111.5:c.90999C>A (TTN)	ENSP00000465570.1:p.Asp30333Glu
ENST00000615779.4:c.90999C>A (TTN)	ENSP00000483597.1:p.Asp30333Glu
NM_001256850.1:c.90999C>A (TTN)	NP_001243779.1:p.Asp30333Glu
NM_001267550.2:c.95922C>A (TTN) MANE Select	NP_001254479.2:p.Asp31974Glu
NM_003319.4:c.68727C>A (TTN)	NP_003310.4:p.Asp22909Glu
NM_133378.4:c.88218C>A (TTN)	NP_596869.4:p.Asp29406Glu
NM_133432.3:c.69102C>A (TTN)	NP_597676.3:p.Asp23034Glu
NM_133437.4:c.69303C>A (TTN)	NP_597681.4:p.Asp23101Glu
NR_038271.1:n.446+20671G>T (TTN-AS1)
NR_038272.1:n.2043+1946G>T (TTN-AS1)
XM_011511729.1:c.95019C>A (TTN)	XP_011510031.1:p.Asp31673Glu
XM_011511730.1:c.68913C>A (TTN)	XP_011510032.1:p.Asp22971Glu
XM_011511731.1:c.68772C>A (TTN)	XP_011510033.1:p.Asp22924Glu
XM_017004819.1:c.94815C>A (TTN)	XP_016860308.1:p.Asp31605Glu
XM_017004820.1:c.90213C>A (TTN)	XP_016860309.1:p.Asp30071Glu
XM_017004821.1:c.90210C>A (TTN)	XP_016860310.1:p.Asp30070Glu
XM_017004822.1:c.87252C>A (TTN)	XP_016860311.1:p.Asp29084Glu
XM_017004823.1:c.68868C>A (TTN)	XP_016860312.1:p.Asp22956Glu
XM_024453094.1:c.90363C>A (TTN)	XP_024308862.1:p.Asp30121Glu
XM_024453095.1:c.90360C>A (TTN)	XP_024308863.1:p.Asp30120Glu
XM_024453096.1:c.89793C>A (TTN)	XP_024308864.1:p.Asp29931Glu
XM_024453097.1:c.87135C>A (TTN)	XP_024308865.1:p.Asp29045Glu
XM_024453098.1:c.87054C>A (TTN)	XP_024308866.1:p.Asp29018Glu
XM_024453099.1:c.68817C>A (TTN)	XP_024308867.1:p.Asp22939Glu
XM_024453100.1:c.58671C>A (TTN)	XP_024308868.1:p.Asp19557Glu